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• W1978734752 abstract "American Journal of Medical Genetics Part AVolume 127A, Issue 3 p. 321-323 Research Letter Fine mapping and clinical reevaluation of a Brazilian pedigree with a severe form of X-linked mental retardation associated with other neurological dysfunction Todd S. Zorick, Todd S. Zorick Human Genome Center, Institute of Biosciences, Department of Biology, University of São Paulo, São Paulo, SP, BrazilSearch for more papers by this authorSuzana Kleimann, Suzana Kleimann Santa Casa Hospital, São Paulo, SP, BrazilSearch for more papers by this authorA. Sertié, A. Sertié Human Genome Center, Institute of Biosciences, Department of Biology, University of São Paulo, São Paulo, SP, BrazilSearch for more papers by this authorMayana Zatz, Mayana Zatz Human Genome Center, Institute of Biosciences, Department of Biology, University of São Paulo, São Paulo, SP, BrazilSearch for more papers by this authorSérgio Rosenberg, Sérgio Rosenberg Santa Casa Hospital, São Paulo, SP, BrazilSearch for more papers by this authorMaria Rita Passos-Bueno, Corresponding Author Maria Rita Passos-Bueno [email protected] Human Genome Center, Institute of Biosciences, Department of Biology, University of São Paulo, São Paulo, SP, BrazilDepartment of Biology, University of São Paulo, Rua do Matão, 277 São Paulo, SP 05508-900, Brazil.Search for more papers by this author Todd S. Zorick, Todd S. Zorick Human Genome Center, Institute of Biosciences, Department of Biology, University of São Paulo, São Paulo, SP, BrazilSearch for more papers by this authorSuzana Kleimann, Suzana Kleimann Santa Casa Hospital, São Paulo, SP, BrazilSearch for more papers by this authorA. Sertié, A. Sertié Human Genome Center, Institute of Biosciences, Department of Biology, University of São Paulo, São Paulo, SP, BrazilSearch for more papers by this authorMayana Zatz, Mayana Zatz Human Genome Center, Institute of Biosciences, Department of Biology, University of São Paulo, São Paulo, SP, BrazilSearch for more papers by this authorSérgio Rosenberg, Sérgio Rosenberg Santa Casa Hospital, São Paulo, SP, BrazilSearch for more papers by this authorMaria Rita Passos-Bueno, Corresponding Author Maria Rita Passos-Bueno [email protected] Human Genome Center, Institute of Biosciences, Department of Biology, University of São Paulo, São Paulo, SP, BrazilDepartment of Biology, University of São Paulo, Rua do Matão, 277 São Paulo, SP 05508-900, Brazil.Search for more papers by this author First published: 05 March 2004 https://doi.org/10.1002/ajmg.a.30009Citations: 5Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. REFERENCES Bergmann C, Zerres K, Senderek J, Rudnik-Schöneborn S, Eggermann T, Häusler M, Mull M, Ramaekers VT. 2003. Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement, and cerebellar hypoplasia. Brain 126: 1537–1544. Bialer MG, Lawrence L, Stevenson RE, Silverberg G, Williams MK, Arena JF, Lubs HA, Schwartz CE. 1992. Allan–Herndon–Dudley syndrome: Clinical and linkage studies on a second family. Am J Med Genet 43: 491–497. Billuart P, Bienvenu T, Ronce N, des Portes V, Vinet MC, Zemni R, Roest Collius H, Carrier A, Fauchereau F, Cherry M, Briault S, Hamel B, Fryns JP, Beldjord C, Kahn A, Moraine C, Chelly J. 1998. Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation. Nature 392: 923–926. Chelly J, Mandel JL. 2001. Monogenic causes of X-linked mental retardation. Nat Rev Genet 2: 669–680. Claes S, Devriendt K, Van Goethem G, Roelen L, Meireleire J, Raeymaekers P, Cassiman JJ, Fryns JP. 2000. Novel syndromic form of X-linked complicated spastic paraplegia. Am J Med Genet 94: 1–4. Crow YJ, Tolmie JL. 1998. Recurrence risks in mental retardation. J Med Genet 35: 177–182. Herbst DS, Miller JR. 1980. Nonspecific X-linked mental retardation II: The frequency in British Columbia. Am J Med Genet 7: 461–469. Moreira ES, Vainzof M, Marie SK, Sertie AL, Zatz M, Passos-Bueno MR. 1997. The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12. Am J Hum Genet 61: 151–159. Passos-Bueno MR, Byth BC, Rosenberg S, Takata RI, Bakker E, Beggs AH, Pavanello RC, Vainzof M, Davies KE, Zatz M. 1993. Severe nonspecific X-linked mental retardation caused by a proximally Xp located gene: Intragenic heterogeneity or a new form of X-linked mental retardation? Am J Med Genet 46: 172–175. Philip N, Chabrol B, Lossi A-M, Cardoso C, Guerrini R, Dobyns WB, Raybaud C, Villard L. 2003. Mutations in the oligophrenin-1 gene (OPHN1) cause X-linked congenital cerebellar hypoplasia. J Med Genet 40: 441–446. Schwartz CE, Ulmer J, Brown A, Pancoast I, Goodman HO, Stevenson RE. 1990. Allan–Herndon syndrome. II. Linkage to DNA markers in Xq21. Am J Hum Genet 47: 454–458. Stevenson RE, Goodman HO, Schwartz CE, Simensen RJ, McLean WT Jr, Herndon CN. 1990. Allan–Herndon syndrome. I. Clinical studies. Am J Hum Genet 47: 446–453. Toniolo D. 2000. In search of the MRX genes. Am J Med Genet 97: 221–227. Citing Literature Volume127A, Issue315 June 2004Pages 321-323 ReferencesRelatedInformation" @default.
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• W1978734752 title "Fine mapping and clinical reevaluation of a Brazilian pedigree with a severe form of X-linked mental retardation associated with other neurological dysfunction" @default.
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